Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle

[Bluish-gray discoloration of skin and conjunctiva].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2019

Matrix-isolation and comparative far-IR investigation of free linear [Cl3]- and a series of alkali trichlorides.

Chemical communications (Cambridge, England)·2017

Electron paramagnetic resonance spectrum of the FCO2 radical isolated in noble gas matrices.

The Journal of chemical physics·2008

EPR and IR spectra of the FSO3 radical revisited: Strong vibronic interactions in the 2A2 electronic ground state.

The Journal of chemical physics·2008

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

Human immunology·2002

Retroclival extradural hematoma is a magnetic resonance imaging diagnosis.

Journal of neurotrauma·2001

The relationship between physical activity and mental health in children with attention-deficit/hyperactivity disorder (ADHD): A scoping review.

Brain & development·2026

Recovery trajectory and clinical factors associated with early recovery in pediatric bell's palsy.

Brain & development·2026

Early postnatal brain volumes and two-year cognitive outcomes in preterm infants: An exploratory machine learning study.

Brain & development·2026

Risk of febrile seizure associated with β-lactam antibiotic use: a case-crossover study with an active comparator.

Brain & development·2026

Long-term real-world outcomes of nusinersen treatment in patients with spinal muscular atrophy types I-III.

Brain & development·2026

Anti-CASPR2 antibody associated Morvan syndrome in adolescents: dramatic response to immunotherapy: a case series.

Brain & development·2026

Mixed Presentation of Hyperglycemic Hyperosmolar State and Diabetic Ketoacidosis in a Pediatric Patient: a Case Report and Literature Review.

Journal of clinical research in pediatric endocrinology·2026

Renin-Aldosterone Activation and Enhanced Urinary Potassium Excretion in Asphyxiated Newborns Treated with Therapeutic Hypothermia: A Prospective Study.

Therapeutic hypothermia and temperature management·2026

Population pharmacokinetics of levetiracetam in term neonates with hypoxic-ischemic encephalopathy and therapeutic hypothermia: The LEVNEONAT-1 study.

British journal of clinical pharmacology·2026

Intubation videoendoscopy in a preterm infant with congenital tracheal stenosis and laryngotracheoesophageal cleft: a case report.

BMC pediatrics·2026

Incidence and predictors of early neonatal mortality among neonates admitted to neonatal intensive care units in public general hospitals in Northwest Ethiopia: a multicenter prospective cohort study.

BMC pediatrics·2026

Loss of protein function resulting in severe phenotypes of X-linked myotubular myopathy caused by novel synonymous and splice-site variants in the MTM1 gene.

Pediatrics and neonatology·2026

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Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle

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[Bluish-gray discoloration of skin and conjunctiva].

Matrix-isolation and comparative far-IR investigation of free linear [Cl3]- and a series of alkali trichlorides.

Electron paramagnetic resonance spectrum of the FCO2 radical isolated in noble gas matrices.

EPR and IR spectra of the FSO3 radical revisited: Strong vibronic interactions in the 2A2 electronic ground state.

Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

Retroclival extradural hematoma is a magnetic resonance imaging diagnosis.

The relationship between physical activity and mental health in children with attention-deficit/hyperactivity disorder (ADHD): A scoping review.

Recovery trajectory and clinical factors associated with early recovery in pediatric bell's palsy.

Early postnatal brain volumes and two-year cognitive outcomes in preterm infants: An exploratory machine learning study.

Risk of febrile seizure associated with β-lactam antibiotic use: a case-crossover study with an active comparator.

Long-term real-world outcomes of nusinersen treatment in patients with spinal muscular atrophy types I-III.

Anti-CASPR2 antibody associated Morvan syndrome in adolescents: dramatic response to immunotherapy: a case series.

Mixed Presentation of Hyperglycemic Hyperosmolar State and Diabetic Ketoacidosis in a Pediatric Patient: a Case Report and Literature Review.

Renin-Aldosterone Activation and Enhanced Urinary Potassium Excretion in Asphyxiated Newborns Treated with Therapeutic Hypothermia: A Prospective Study.

Population pharmacokinetics of levetiracetam in term neonates with hypoxic-ischemic encephalopathy and therapeutic hypothermia: The LEVNEONAT-1 study.

Intubation videoendoscopy in a preterm infant with congenital tracheal stenosis and laryngotracheoesophageal cleft: a case report.

Incidence and predictors of early neonatal mortality among neonates admitted to neonatal intensive care units in public general hospitals in Northwest Ethiopia: a multicenter prospective cohort study.

Loss of protein function resulting in severe phenotypes of X-linked myotubular myopathy caused by novel synonymous and splice-site variants in the MTM1 gene.

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Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle

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